Canonical Allele Identifier: CA3729072

Gene: SKIC2

Linked Data

• dbSNP Id: rs756736414
• ExAC: 6:31927821 T / C
• gnomAD v2: 6-31927821-T-C
• MyVariant Identifiers: chr6:g.31927821T>C (hg19) ; chr6:g.31960044T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960044T>C , CM000668.2:g.31960044T>C	GRCh38
NC_000006.11:g.31927821T>C , CM000668.1:g.31927821T>C	GRCh37
NC_000006.10:g.32035800T>C	NCBI36
NG_032652.1:g.6241T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.161T>C	ENSP00000419905.1:p.Leu54Pro
ENST00000483553.6:c.161T>C	ENSP00000420332.2:p.Leu54Pro
ENST00000485349.6:n.202T>C
ENST00000491994.2:c.161T>C	ENSP00000417586.2:p.Leu54Pro
ENST00000494058.6:n.218T>C
ENST00000697831.1:c.161T>C	ENSP00000513453.1:p.Leu54Pro
ENST00000697832.1:n.237T>C
ENST00000697833.1:c.161T>C	ENSP00000513454.1:p.Leu54Pro
ENST00000697834.1:n.213T>C
ENST00000697835.1:c.161T>C	ENSP00000513455.1:p.Leu54Pro
ENST00000697836.1:n.197T>C
ENST00000697837.1:c.161T>C	ENSP00000513456.1:p.Leu54Pro
ENST00000697838.1:c.26T>C	ENSP00000513457.1:p.Leu9Pro
ENST00000697839.1:n.183T>C
ENST00000697840.1:c.161T>C	ENSP00000513458.1:p.Leu54Pro
ENST00000697841.1:n.172T>C
ENST00000697842.1:n.161T>C
ENST00000375394.7:c.161T>C MANE Select	ENSP00000364543.2:p.Leu54Pro
ENST00000375394.6:c.161T>C	ENSP00000364543.2:p.Leu54Pro
ENST00000461073.5:c.161T>C	ENSP00000419905.1:p.Leu54Pro
ENST00000465703.5:n.213T>C
ENST00000474839.5:c.126+644T>C	ENSP00000420470.1:n.126+644T>C
ENST00000488648.5:n.237T>C
ENST00000628157.1:c.126+644T>C	ENSP00000485707.1:n.126+644T>C
NM_006929.4:c.161T>C	NP_008860.4:p.Leu54Pro
XM_006715168.2:c.161T>C	XP_006715231.1:p.Leu54Pro
XM_011514815.1:c.161T>C	XP_011513117.1:p.Leu54Pro
XR_926301.1:n.249T>C
XM_011514815.3:c.161T>C	XP_011513117.1:p.Leu54Pro
XR_001743586.2:n.197T>C
XR_926301.3:n.197T>C
NM_006929.5:c.161T>C MANE Select	NP_008860.4:p.Leu54Pro